Y chromosome and new concept of azoospermia factor

The completion of a draft sequence of the entire human genome in 2001 was followed by a complete sequencing of the Y chromosome in 2003. It is now possible to refer to a physical map of the Y chromosome. The Y chromosome can be classified into X-transposed, X-degenerate and ampliconic sequences depending on the origins of its sequences. In particular, the ampliconic sequences are complexes of massive palindrome structures in which sequences having higher than 99.9% homology are present symmetrically. Interestingly, palindromic repeats may undergo frequent gene conversion associated with intrachromosomal recombination and play an important role in the maintenance of the genetic materials of the Y chromosome. The azoospermia factor (AZF) region of the ampliconic region is the most probable candidate for spermatogenesis, and forms a palindrome structure. Thus, there is a limit in the detection of microdeletion using conventional sequence-tagged sites based on polymerase chain reaction because of their structure. It is now necessary to update the AZF concept. (Reprod Med Biol 2005; 4: 123-128).